Male Infertility Database

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Gene id

29940

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

DSE Gene UCSC Ensembl

Aliases

DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2

Gene name

dermatan sulfate epimerase

Alternate names

dermatan-sulfate epimerase, DS epimerase, chondroitin-glucuronate 5-epimerase, squamous cell carcinoma antigen recognized by T-cells 2,

Gene location

6q22.1 (116254170: 116444860) Exons: 15 NC_000006.12

Gene summary(Entrez)

The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes ca

OMIM

605942

Protein Summary

Protein general information

Q9UL01

Name: Dermatan sulfate epimerase (DS epimerase) (EC 5.1.3.19) (Chondroitin glucuronate 5 epimerase) (Squamous cell carcinoma antigen recognized by T cells 2) (SART 2)

Length: 958 Mass: 109773

Tissue specificity: Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other

Sequence

MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRAASSHEHIAARLTEAV
HTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENIEARDMAKDYMERMAAQPSWLVKDAPWDEVP
LAHSLVGFATAYDFLYNYLSKTQQEKFLEVIANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGY
LQEAYLWTKQVLTIMEKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSKGQRWCTLHTEFLWYD
GSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSGKLGGRAIYDIVHRNKYKDWIKGWRNFNAGH
EHPDQNSFTFAPNGVPFITEALYGPKYTFFNNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRV
VAAEEKNGVVFIRGEGVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRAAYLFIGPSIDVQSFT
VHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKILFDRNSAIKSSIVPEVKDYAAIVEQNLQHFK
PVFQLLEKQILSRVRNTASFRKTAERLLRFSDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDI
FAQIEVNEKKIRQKAQILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC

Structural information

Interpro:	IPR008929 IPR032518
PDB:	6HZN
PDBsum:	6HZN
MINT:
STRING:	ENSP00000332151

Other Databases

GeneCards: DSE Malacards: DSE

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0047757	chondroitin-glucuronate 5 -epimerase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0030205	dermatan sulfate metaboli c process	IBA	biological process
GO:0030204	chondroitin sulfate metab olic process	IBA	biological process
GO:0047757	chondroitin-glucuronate 5 -epimerase activity	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0047757	chondroitin-glucuronate 5 -epimerase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030208	dermatan sulfate biosynth etic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015012	heparan sulfate proteogly can biosynthetic process	IEA	biological process
GO:0030206	chondroitin sulfate biosy nthetic process	IEA	biological process
GO:0030208	dermatan sulfate biosynth etic process	IDA	biological process

KEGG pathways

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Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

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Associated diseases	References
Ehlers-Danlos syndrome musculocontractural type	KEGG:H02246
Ehlers-Danlos syndrome musculocontractural type	KEGG:H02246
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
17327269	Teratozoos permia	13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
29961538	Male facto r infertil ity	318 (128 couple s presenting wi th OAT (MF) and 118 maternal a ge-matched cont rol (no MF) sub jects undergoin g infertility t reatment, 72 su rplus cryoprese rved blastocyst s)	Male infertility	RNA-seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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